Diamond-Blackfan anemia natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
==Diamond-Blackfan anemia natural history, complications and prognosis== | ==Diamond-Blackfan anemia natural history, complications and prognosis== | ||
'''Natural history''' | |||
The severity of Diamond-Blackfan anemia may vary, even within the same family. | |||
*'''Classic DBA:''' | |||
**Symptoms of [[anemia]] include [[fatigue]], weakness, and an abnormally pale appearance ([[pallor]]). | |||
**The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life | |||
*Approximately half of DBA cases have Congenital malformations, in particular [[craniofacial]], [[upper-limb]], heart, and [[genitourinar]]y malformations:(observed in ~30%-50%): | |||
**[[Microcephaly]] | |||
**low frontal hairline | |||
**Wide-set eyes ([[hypertelorism]]) | |||
**Droopy eyelids ([[ptosis]]) | |||
**Broad, flat bridge of the nose | |||
**Small, low-set ears | |||
**Small lower jaw ([[micrognathia]]) | |||
**[[Cleft palate]] | |||
**[[Cleft lip]] | |||
**Short, webbed neck | |||
**Smaller and higher shoulder blades than usual | |||
**Malformed or absent thumbs | |||
*All diagnostic criteria are met. | |||
*'''Non-classic DBA:''' | |||
**presents with mild or absent [[anemia]] with only subtle indications of erythroid abnormalities such as macrocytosis, elevated [[ADA]], and/or elevated [[HbF]] concentration | |||
**Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. | |||
**Minimal or no evidence of congenital anomalies or short stature<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 22:23, 7 August 2020
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Overview
Diamond-Blackfan anemia natural history, complications and prognosis
Natural history The severity of Diamond-Blackfan anemia may vary, even within the same family.
- Classic DBA:
- Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
- Microcephaly
- low frontal hairline
- Wide-set eyes (hypertelorism)
- Droopy eyelids (ptosis)
- Broad, flat bridge of the nose
- Small, low-set ears
- Small lower jaw (micrognathia)
- Cleft palate
- Cleft lip
- Short, webbed neck
- Smaller and higher shoulder blades than usual
- Malformed or absent thumbs
- All diagnostic criteria are met.
- Non-classic DBA:
- presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration
- Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
- Minimal or no evidence of congenital anomalies or short stature[1]